Canonical Allele Identifier: CA359226468

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13928094C>G , CM000667.2:g.13928094C>G	GRCh38
NC_000005.9:g.13928203C>G , CM000667.1:g.13928203C>G	GRCh37
NC_000005.8:g.13981203C>G	NCBI36
NG_013081.1:g.21387G>C
NG_013081.2:g.21387G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.277G>C MANE Select	NP_001360.1:p.Gly93Arg
ENST00000265104.5:c.277G>C MANE Select	ENSP00000265104.4:p.Gly93Arg
NM_001369.2:c.277G>C	NP_001360.1:p.Gly93Arg
ENST00000265104.4:c.277G>C	ENSP00000265104.4:p.Gly93Arg
ENST00000508040.1:n.636G>C
ENST00000680213.1:c.37G>C	ENSP00000506622.1:p.Gly13Arg
ENST00000680213.2:n.333G>C
ENST00000681290.1:c.232G>C	ENSP00000505288.1:p.Gly78Arg
ENST00000682376.1:n.321G>C
ENST00000682586.1:n.321G>C
ENST00000683011.1:n.311G>C
ENST00000683967.1:n.327G>C
ENST00000684013.1:n.327G>C
ENST00000684099.1:n.372G>C
XM_005248262.2:c.232G>C	XP_005248319.1:p.Gly78Arg
XM_005248262.3:c.385G>C	XP_005248319.2:p.Gly129Arg
XM_011513990.1:c.277G>C	XP_011512292.1:p.Gly93Arg
XM_017009177.1:c.385G>C	XP_016864666.1:p.Gly129Arg
XM_017009178.1:c.-760G>C	XP_016864667.1:n.-760G>C
XM_017009180.1:c.385G>C	XP_016864669.1:p.Gly129Arg
XM_017009181.1:c.385G>C	XP_016864670.1:p.Gly129Arg
XM_017009182.1:c.385G>C	XP_016864671.1:p.Gly129Arg
XM_017009183.1:c.385G>C	XP_016864672.1:p.Gly129Arg
XM_017009184.1:c.385G>C	XP_016864673.1:p.Gly129Arg
XM_017009187.1:c.385G>C	XP_016864676.1:p.Gly129Arg
XM_024454388.1:c.-2630G>C	XP_024310156.1:n.-2630G>C
XM_024454389.1:c.-1683G>C	XP_024310157.1:n.-1683G>C
XR_001742034.1:n.402G>C
XR_001742035.1:n.402G>C
XR_925598.1:n.484G>C